LAMA2 variants in ExAC

LAMA2 gene summary
LAMA2 variants in

The table below lists the LAMA2 variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 129807629 c.7760C>T p.A2587V missense 0.66784216●●●●●●
2. 129571330 c.1856G>A p.R619H missense 0.18275589●●●●●●
3. 129813053 c.7906A>G p.T2636A missense 0.09253773●●●●●●
4. 129635800 c.3412G>A p.V1138M missense 0.06873277●●●●●●
5. 129687396 c.4750G>A p.G1584S missense 0.01963176●●●●●●
6. 129612765 c.2756G>T p.R919L missense 0.01430631●●●●●●
7. 129571272 c.1798G>A p.G600R missense 0.01322189●●●●●●
8. 129722453 c.5530C>A p.R1844S missense 0.01073373●●●●●●
9. 129826335 c.8548-10T>C splice site 0.00879382●●●●●●
10. 129762042 c.6167C>A p.T2056K missense 0.00815029●●●●●●
11. 129764217 c.6274+4C>T splice site 0.00812643●●●●●●
12. 129824406 c.8528A>G p.N2843S missense 0.00699053●●●●●●
13. 129670438 c.4437-5T>A splice site 0.00572931●●●●●●
14. 129712626 c.5072-10delC splice site 0.00520417●●●●●●
15. 129601231 c.2476C>T p.R826W missense 0.00503073●●●●●●
16. 129636678 c.3613A>G p.T1205A missense 0.00406096●●●●●●
17. 129670493 c.4487C>T p.A1496V missense 0.00334492●●●●●●
18. 129511468 c.1586G>A p.S529N missense 0.00325311●●●●●●
19. 129573274 c.1930C>G p.H644D missense 0.00290515●●●●●●
20. 129475839 c.1206+11C>T splice site 0.00280782●●●●●●
21. 129513850 c.1634T>A p.L545Q missense 0.00278338●●●●●●
22. 129794489 c.7431A>T p.R2477S missense 0.00259773●●●●●●
23. 129601217 c.2462C>T p.T821M missense 0.00203319●●●●●●
24. 129498947 c.1403C>G p.A468G missense 0.00179957●●●●●●
25. 129828704 c.8774C>T p.P2925L missense 0.00176309●●●●●●
26. 129513837 c.1621A>G p.S541G missense 0.00172807●●●●●●
27. 129634127 c.3296A>G p.N1099S missense 0.00168880●●●●●●
28. 129498852 c.1308T>G p.G436G splice site 0.00124598●●●●●●
29. 129470136 c.922G>A p.E308K missense 0.00113743●●●●●●
30. 129637177 c.3925-6T>A splice site 0.00109863●●●●●●
31. 129204464 c.74C>T p.P25L missense 0.00106278●●●●●●
32. 129777560 c.6788C>T p.T2263M missense 0.00096447●●●●●●
33. 129588259 c.2217G>T p.W739C missense 0.00093983●●●●●●
34. 129748940 c.5909G>C p.C1970S missense 0.00089872●●●●●●
35. 129762036 c.6161A>G p.Q2054R missense 0.00075967●●●●●●
36. 129759787 c.5969-4G>A splice site 0.00074040●●●●●●
37. 129762003 c.6128A>G p.Q2043R missense 0.00073477●●●●●●
38. 129514008 c.1782+10C>T splice site 0.00072713●●●●●●
39. 129828685 c.8755C>T p.P2919S missense 0.00072502●●●●●●
40. 129691141 c.4959+6G>T splice site 0.00072459●●●●●●
41. 129766974 c.6429+8C>A splice site 0.00071923●●●●●●
42. 129723539 c.5633C>T p.S1878F missense 0.00071070●●●●●●
43. 129835746 c.9211+6T>C splice site 0.00064170●●●●●●
44. 129712626 c.5072-10C>A splice site 0.00063929●●●●●●
45. 129475646 c.1028-4G>A splice site 0.00063493●●●●●●
46. 129826481 c.8684C>G p.T2895S missense 0.00059360●●●●●●
47. 129762148 c.6268+5G>C splice site 0.00058809●●●●●●
48. 129828658 c.8728G>A p.V2910I missense 0.00056863●●●●●●
49. 129802475 c.7640G>A p.G2547E missense 0.00055237●●●●●●
50. 129722453 c.5530C>T p.R1844C missense 0.00049655●●●●●●
51. 129837463 c.9340G>A p.V3114I missense 0.00049585●●●●●●
52. 129712638 c.5074G>C p.V1692L missense 0.00045783●●●●●●
53. 129785553 c.7111T>G p.F2371V missense 0.00044523●●●●●●
54. 129775375 c.6649G>A p.V2217I missense 0.00040562●●●●●●
55. 129649547 c.4301C>T p.S1434L missense 0.00040365●●●●●●
56. 129635920 c.3532G>A p.A1178T missense 0.00039551●●●●●●
57. 129612764 c.2755C>T p.R919C missense 0.00039516●●●●●●
58. 129571288 c.1814C>T p.T605I missense 0.00038739●●●●●●
59. 129777477 c.6708-3A>C splice site 0.00037979●●●●●●
60. 129828772 c.8842G>A p.G2948S missense 0.00037913●●●●●●
61. 129704300 c.4993G>A p.G1665R missense 0.00037809●●●●●●
62. 129762081 c.6206A>G p.Y2069C missense 0.00035513●●●●●●
63. 129774242 c.6539A>T p.D2180V missense 0.00033073●●●●●●
64. 129687418 c.4772A>G p.Q1591R missense 0.00032978●●●●●●
65. 129634213 c.3382A>G p.S1128G missense 0.00030798●●●●●●
66. 129775423 c.6697G>A p.V2233I missense 0.00030784●●●●●●
67. 129381049 c.396+8T>A splice site 0.00029270●●●●●●
68. 129823841 c.8282T>C p.I2761T missense 0.00028882●●●●●●
69. 129636730 c.3665A>G p.D1222G missense 0.00028828●●●●●●
70. 129722432 c.5509G>A p.D1837N missense 0.00028092●●●●●●
71. 129759824 c.6002G>A p.R2001K missense 0.00025776●●●●●●
72. 129663525 c.4349G>A p.R1450Q missense 0.00025544●●●●●●
73. 129796526 c.7440-9G>A splice site 0.00024833●●●●●●
74. 129618977 c.3004G>A p.G1002S missense 0.00023763●●●●●●
75. 129641781 c.4157A>T p.Y1386F missense 0.00023233●●●●●●
76. 129786384 c.7250A>G p.H2417R missense 0.00023201●●●●●●
77. 129670477 c.4471G>A p.D1491N missense 0.00023067●●●●●●
78. 129704328 c.5021G>A p.R1674K missense 0.00022734●●●●●●
79. 129774209 c.6506A>G p.N2169S missense 0.00022369●●●●●●
80. 129781361 c.6884G>A p.R2295H missense 0.00022298●●●●●●
81. 129704276 c.4969G>A p.V1657M missense 0.00022065●●●●●●
82. 129470160 c.946G>A p.D316N missense 0.00021438●●●●●●
83. 129641809 c.4176+9C>T splice site 0.00020207●●●●●●
84. 129775355 c.6629T>C p.V2210A missense 0.00019832●●●●●●
85. 129799834 c.7452-4A>C splice site 0.00019828●●●●●●
86. 129498944 c.1400A>G p.K467R missense 0.00019811●●●●●●
87. 129759786 c.5969-5C>T splice site 0.00019374●●●●●●
88. 129722454 c.5531G>A p.R1844H missense 0.00019035●●●●●●
89. 129621997 c.3154A>G p.S1052G missense 0.00018947●●●●●●
90. 129588330 c.2288C>T p.A763V missense 0.00018139●●●●●●
91. 129419358 c.437C>G p.S146C missense 0.00018123●●●●●●
92. 129722481 c.5558T>G p.I1853R missense 0.00017423●●●●●●
93. 129637268 c.4010A>G p.H1337R missense 0.00017357●●●●●●
94. 129785560 c.7118C>T p.S2373L missense 0.00017317●●●●●●
95. 129475707 c.1085G>T p.R362I missense 0.00017307●●●●●●
96. 129475706 c.1084A>T p.R362X nonsense 0.00017306●●●●●●
97. 129581891 c.2132A>G p.Y711C missense 0.00016478●●●●●●
98. 129794473 c.7415G>T p.G2472V missense 0.00015750●●●●●●
99. 129723595 c.5689G>A p.A1897T missense 0.00015692●●●●●●
100. 129785482 c.7040G>T p.G2347V missense 0.00015687●●●●●●
101. 129824266 c.8388A>C p.E2796D missense 0.00015655●●●●●●
102. 129828691 c.8761G>A p.D2921N missense 0.00015654●●●●●●
103. 129636693 c.3628A>G p.I1210V missense 0.00015650●●●●●●
104. 129634034 c.3203T>C p.L1068S missense 0.00015063●●●●●●
105. 129634075 c.3244C>T p.H1082Y missense 0.00014887●●●●●●
106. 129618966 c.2993G>A p.R998H missense 0.00014264●●●●●●
107. 129807641 c.7772A>G p.N2591S missense 0.00014027●●●●●●
108. 129813158 c.8011C>A p.P2671T missense 0.00014020●●●●●●
109. 129835690 c.9161C>A p.A3054E missense 0.00014017●●●●●●
110. 129828766 c.8836G>A p.G2946R missense 0.00014010●●●●●●
111. 129762111 c.6236C>T p.T2079M missense 0.00013232●●●●●●
112. 129670501 c.4495C>T p.R1499W missense 0.00013183●●●●●●
113. 129777604 c.6832A>G p.M2278V missense 0.00013182●●●●●●
114. 129775418 c.6692G>A p.R2231H missense 0.00012696●●●●●●
115. 129204397 c.7G>A p.G3R missense 0.00012505●●●●●●
116. 129835530 c.9001G>C p.V3001L missense 0.00012409●●●●●●
117. 129774266 c.6563G>A p.S2188N missense 0.00012403●●●●●●
118. 129802516 c.7681G>A p.G2561S missense 0.00012365●●●●●●
119. 129687408 c.4762C>T p.R1588C missense 0.00012365●●●●●●
120. 129475728 c.1106G>A p.R369H missense 0.00012360●●●●●●
121. 129204403 c.13G>A p.A5T missense 0.00012179●●●●●●
122. 129618987 c.3014A>G p.N1005S missense 0.00012046●●●●●●
123. 129468186 c.902C>T p.A301V missense 0.00011557●●●●●●
124. 129498917 c.1373G>A p.R458K missense 0.00011552●●●●●●
125. 129637033 c.3862G>A p.V1288I missense 0.00011543●●●●●●
126. 129636681 c.3616A>G p.T1206A missense 0.00011532●●●●●●
127. 129837489 c.9366_9367insTAAT frameshift 0.00010963●●●●●●
128. 129691106 c.4930G>A p.V1644M missense 0.00010761●●●●●●
129. 129813132 c.7985T>C p.V2662A missense 0.00010728●●●●●●
130. 129785554 c.7112T>G p.F2371C missense 0.00010719●●●●●●
131. 129674460 c.4675G>A p.G1559S missense 0.00010715●●●●●●
132. 129511377 c.1495C>T p.R499C missense 0.00010713●●●●●●
133. 129670468 c.4462G>A p.G1488R missense 0.00010710●●●●●●
134. 129371186 c.236G>A p.R79K missense 0.00010709●●●●●●
135. 129609124 c.2670A>C p.K890N missense 0.00010707●●●●●●
136. 129204418 c.28C>T p.L10F missense 0.00010610●●●●●●
137. 129618905 c.2932G>A p.D978N missense 0.00009919●●●●●●
138. 129591771 c.2325C>A p.N775K missense 0.00009909●●●●●●
139. 129419544 c.623C>A p.P208H missense 0.00009907●●●●●●
140. 129513861 c.1645C>T p.P549S missense 0.00009901●●●●●●
141. 129833555 c.8905C>T p.R2969C missense 0.00009897●●●●●●
142. 129419454 c.533C>T p.T178M missense 0.00009885●●●●●●
143. 129371101 c.151C>T p.L51F missense 0.00009884●●●●●●
144. 129766887 c.6350A>G p.K2117R missense 0.00009105●●●●●●
145. 129691085 c.4909G>A p.E1637K missense 0.00009098●●●●●●
146. 129799852 c.7466T>C p.L2489P missense 0.00009081●●●●●●
147. 129824402 c.8524A>G p.I2842V missense 0.00009076●●●●●●
148. 129674506 c.4717+4C>T splice site 0.00009075●●●●●●
149. 129573389 c.2045_2046delAG p.R683Sfs*91 frameshift 0.00009073●●●●●●
150. 129833568 c.8918C>T p.T2973M missense 0.00009069●●●●●●
151. 129670483 c.4477C>T p.R1493C missense 0.00009062●●●●●●
152. 129774133 c.6430A>C p.I2144L missense 0.00008719●●●●●●
153. 129714272 c.5317C>T p.R1773W missense 0.00008268●●●●●●
154. 129663620 c.4436+8T>C splice site 0.00008261●●●●●●
155. 129785499 c.7057C>T p.R2353C missense 0.00008254●●●●●●
156. 129785500 c.7058G>A p.R2353H missense 0.00008254●●●●●●
157. 129722400 c.5477G>A p.R1826Q missense 0.00008241●●●●●●
158. 129824345 c.8467C>T p.P2823S missense 0.00008240●●●●●●
159. 129371201 c.251G>A p.R84Q missense 0.00008238●●●●●●
160. 129419391 c.470C>G p.S157C missense 0.00008237●●●●●●
161. 129823916 c.8357G>A p.R2786H missense 0.00007656●●●●●●
162. 129635813 c.3425G>C p.G1142A missense 0.00007488●●●●●●
163. 129612776 c.2767G>A p.G923S missense 0.00007486●●●●●●
164. 129714246 c.5291A>G p.E1764G missense 0.00007478●●●●●●
165. 129762104 c.6229G>A p.A2077T missense 0.00007442●●●●●●
166. 129813531 c.8147G>A p.R2716H missense 0.00007442●●●●●●
167. 129498935 c.1391C>T p.P464L missense 0.00007429●●●●●●
168. 129618854 c.2881G>A p.A961T missense 0.00007429●●●●●●
169. 129826487 c.8690G>A p.R2897Q missense 0.00007421●●●●●●
170. 129833568 c.8918C>A p.T2973K missense 0.00007420●●●●●●
171. 129581908 c.2149A>G p.I717V missense 0.00007416●●●●●●
172. 129419474 c.553C>T p.R185C missense 0.00007414●●●●●●
173. 129486815 c.1301G>A p.R434Q missense 0.00007252●●●●●●
174. 129204442 c.52G>T p.G18W missense 0.00007175●●●●●●
175. 129704357 c.5050G>A p.E1684K missense 0.00006966●●●●●●
176. 129775422 c.6696C>T essential splice site 0.00006809●●●●●●
177. 129759821 c.5999C>A p.T2000N missense 0.00006654●●●●●●
178. 129722485 c.5562C>T splice site 0.00006639●●●●●●
179. 129691121 c.4945G>C p.E1649Q missense 0.00006630●●●●●●
180. 129465130 c.724C>T p.R242C missense 0.00006610●●●●●●
181. 129775324 c.6598C>T p.R2200C missense 0.00006609●●●●●●
182. 129813125 c.7978C>A p.L2660I missense 0.00006604●●●●●●
183. 129807686 c.7817T>C p.M2606T missense 0.00006599●●●●●●
184. 129573353 c.2009G>A p.R670H missense 0.00006598●●●●●●
185. 129826387 c.8590G>C p.D2864H missense 0.00006598●●●●●●
186. 129802543 c.7708A>G p.T2570A missense 0.00006595●●●●●●
187. 129835674 c.9145C>G p.Q3049E missense 0.00006595●●●●●●
188. 129802567 c.7732C>T p.R2578X nonsense 0.00006594●●●●●●
189. 129833627 c.8977A>G p.I2993V missense 0.00006592●●●●●●
190. 129419330 c.409G>A p.A137T missense 0.00006590●●●●●●
191. 129823903 c.8344A>G p.K2782E missense 0.00005864●●●●●●
192. 129712707 c.5143G>A p.E1715K missense 0.00005802●●●●●●
193. 129691121 c.4945G>A p.E1649K missense 0.00005801●●●●●●
194. 129766859 c.6322C>T p.R2108W missense 0.00005792●●●●●●
195. 129691055 c.4879C>T p.R1627W missense 0.00005792●●●●●●
196. 129712743 c.5179G>C p.E1727Q missense 0.00005789●●●●●●
197. 129837451 c.9328G>A p.E3110K missense 0.00005776●●●●●●
198. 129674377 c.4592C>G p.P1531R missense 0.00005776●●●●●●
199. 129714360 c.5405G>T p.R1802L missense 0.00005775●●●●●●
200. 129573383 c.2039A>G p.N680S missense 0.00005773●●●●●●
201. 129588282 c.2240G>C p.G747A missense 0.00005770●●●●●●
202. 129649451 c.4205G>A p.R1402H missense 0.00005766●●●●●●
203. 129419442 c.521C>T p.T174M missense 0.00005766●●●●●●
204. 129636751 c.3686A>C p.H1229P missense 0.00005766●●●●●●
205. 129511483 c.1601A>T p.Y534F missense 0.00005003●●●●●●
206. 129601267 c.2512G>A p.G838R missense 0.00004961●●●●●●
207. 129465121 c.715C>T p.R239C missense 0.00004959●●●●●●
208. 129837463 c.9340G>T p.V3114F missense 0.00004959●●●●●●
209. 129513831 c.1615G>C p.D539H missense 0.00004956●●●●●●
210. 129781360 c.6883C>T p.R2295C missense 0.00004955●●●●●●
211. 129637234 c.3976C>T p.R1326X nonsense 0.00004953●●●●●●
212. 129833540 c.8890G>T p.V2964L missense 0.00004951●●●●●●
213. 129687432 c.4786A>G p.I1596V missense 0.00004948●●●●●●
214. 129748904 c.5873G>A p.G1958D missense 0.00004948●●●●●●
215. 129785530 c.7088C>T p.T2363I missense 0.00004947●●●●●●
216. 129826441 c.8644G>A p.V2882M missense 0.00004946●●●●●●
217. 129833570 c.8920A>T p.T2974S missense 0.00004946●●●●●●
218. 129571290 c.1816A>G p.I606V missense 0.00004945●●●●●●
219. 129634115 c.3284G>A p.R1095Q missense 0.00004944●●●●●●
220. 129824264 c.8386G>A p.E2796K missense 0.00004944●●●●●●
221. 129635927 c.3539G>C p.G1180A missense 0.00004944●●●●●●
222. 129609189 c.2735C>T p.A912V missense 0.00004943●●●●●●
223. 129419400 c.479A>T p.D160V missense 0.00004942●●●●●●
224. 129371092 c.142T>C p.S48P missense 0.00004942●●●●●●
225. 129636760 c.3695C>A p.P1232H missense 0.00004942●●●●●●
226. 129204425 c.35T>A p.L12Q missense 0.00004924●●●●●●
227. 129204488 c.98C>A p.A33E missense 0.00004917●●●●●●
228. 129486769 c.1255A>G p.I419V missense 0.00004279●●●●●●
229. 129823915 c.8356C>T p.R2786C missense 0.00004249●●●●●●
230. 129634234 c.3403A>C p.T1135P missense 0.00004220●●●●●●
231. 129813628 c.8244T>C essential splice site 0.00004165●●●●●●
232. 129612840 c.2831A>G p.Q944R missense 0.00004143●●●●●●
233. 129766860 c.6323G>A p.R2108Q missense 0.00004137●●●●●●
234. 129511444 c.1562C>T p.S521L missense 0.00004134●●●●●●
235. 129714273 c.5318G>A p.R1773Q missense 0.00004134●●●●●●
236. 129465086 c.680A>G p.D227G missense 0.00004134●●●●●●
237. 129601232 c.2477G>A p.R826Q missense 0.00004130●●●●●●
238. 129781385 c.6908T>C p.M2303T missense 0.00004130●●●●●●
239. 129826350 c.8553G>T p.K2851N missense 0.00004130●●●●●●
240. 129511428 c.1546G>C p.D516H missense 0.00004129●●●●●●
241. 129762011 c.6136G>A p.D2046N missense 0.00004128●●●●●●
242. 129637235 c.3977G>A p.R1326Q missense 0.00004128●●●●●●
243. 129571347 c.1873A>G p.I625V missense 0.00004124●●●●●●
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488. 129573307 c.1963C>T p.L655F missense 0.00001652●●●●●●
489. 129635857 c.3469G>A p.A1157T missense 0.00001652●●●●●●
490. 129637253 c.3995T>C p.I1332T missense 0.00001652●●●●●●
491. 129637259 c.4001A>G p.Y1334C missense 0.00001652●●●●●●
492. 129641754 c.4130T>C p.I1377T missense 0.00001652●●●●●●
493. 129722430 c.5507A>G p.N1836S missense 0.00001652●●●●●●
494. 129725097 c.5858C>A p.T1953K missense 0.00001652●●●●●●
495. 129781433 c.6956G>A p.R2319Q missense 0.00001652●●●●●●
496. 129835717 c.9188C>A p.P3063H missense 0.00001651●●●●●●
497. 129762011 c.6136G>C p.D2046H missense 0.00001651●●●●●●
498. 129636905 c.3736-2A>T essential splice site 0.00001651●●●●●●
499. 129591838 c.2392A>G p.K798E missense 0.00001651●●●●●●
500. 129591896 c.2450A>C p.N817T missense 0.00001651●●●●●●
501. 129634194 c.3363G>T p.E1121D missense 0.00001651●●●●●●
502. 129637214 c.3956G>A p.R1319Q missense 0.00001651●●●●●●
503. 129714290 c.5335T>C p.Y1779H missense 0.00001651●●●●●●
504. 129761997 c.6122C>T p.A2041V missense 0.00001651●●●●●●
505. 129762009 c.6134A>G p.N2045S missense 0.00001651●●●●●●
506. 129824407 c.8529T>G p.N2843K missense 0.00001651●●●●●●
507. 129761987 c.6112_6114delAAG p.Lys2038del inframe 0.00001651●●●●●●
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510. 129498920 c.1376G>T p.G459V missense 0.00001650●●●●●●
511. 129380974 c.3556-13T>A splice site 0.00001650●●●●●●
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513. 129637043 c.3872T>C p.M1291T missense 0.00001650●●●●●●
514. 129674383 c.4598G>A p.G1533D missense 0.00001650●●●●●●
515. 129714357 c.5402A>G p.N1801S missense 0.00001650●●●●●●
516. 129714359 c.5404C>T p.R1802C missense 0.00001650●●●●●●
517. 129725066 c.5827A>G p.K1943E missense 0.00001650●●●●●●
518. 129777505 c.6733G>A p.V2245M missense 0.00001650●●●●●●
519. 129777508 c.6736A>G p.R2246G missense 0.00001650●●●●●●
520. 129785509 c.7067G>A p.R2356H missense 0.00001650●●●●●●
521. 129826372 c.8575G>A p.G2859R missense 0.00001650●●●●●●
522. 129371232 c.282C>T splice site 0.00001650●●●●●●
523. 129748891 c.5866-6C>A splice site 0.00001650●●●●●●
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526. 129807737 c.7868A>C p.E2623A missense 0.00001649●●●●●●
527. 129637037 c.3866G>A p.R1289K missense 0.00001649●●●●●●
528. 129571257 c.1783C>T p.L595F missense 0.00001649●●●●●●
529. 129674484 c.4699G>A p.E1567K missense 0.00001649●●●●●●
530. 129802587 c.7749+3A>G splice site 0.00001649●●●●●●
531. 129573380 c.2036C>A p.A679E missense 0.00001649●●●●●●
532. 129588275 c.2233G>A p.V745I missense 0.00001649●●●●●●
533. 129511411 c.1529A>G p.D510G missense 0.00001649●●●●●●
534. 129513918 c.1702A>G p.S568G missense 0.00001649●●●●●●
535. 129571266 c.1792G>A p.V598I missense 0.00001649●●●●●●
536. 129687408 c.4762C>G p.R1588G missense 0.00001649●●●●●●
537. 129724973 c.5734G>C p.D1912H missense 0.00001649●●●●●●
538. 129724978 c.5739G>T p.E1913D missense 0.00001649●●●●●●
539. 129725052 c.5813C>G p.A1938G missense 0.00001649●●●●●●
540. 129748957 c.5926A>T p.R1976W missense 0.00001649●●●●●●
541. 129777557 c.6785C>T p.S2262L missense 0.00001649●●●●●●
542. 129785590 c.7148G>A p.R2383Q missense 0.00001649●●●●●●
543. 129802471 c.7636G>A p.V2546I missense 0.00001649●●●●●●
544. 129802510 c.7675G>A p.E2559K missense 0.00001649●●●●●●
545. 129802516 c.7681G>C p.G2561R missense 0.00001649●●●●●●
546. 129813174 c.8027A>G p.N2676S missense 0.00001649●●●●●●
547. 129833561 c.8911A>G p.T2971A missense 0.00001649●●●●●●
548. 129835636 c.9107G>A p.R3036H missense 0.00001649●●●●●●
549. 129835655 c.9126T>A p.D3042E missense 0.00001649●●●●●●
550. 129724962 c.5727-4C>T splice site 0.00001649●●●●●●
551. 129785604 c.7155+7A>T splice site 0.00001649●●●●●●
552. 129828791 c.8857+4A>T splice site 0.00001649●●●●●●
553. 129621941 c.3098C>G p.P1033R missense 0.00001648●●●●●●
554. 129663524 c.4348C>T p.R1450X nonsense 0.00001648●●●●●●
555. 129674439 c.4654G>A p.A1552T missense 0.00001648●●●●●●
556. 129419331 c.410C>T p.A137V missense 0.00001648●●●●●●
557. 129621929 c.3086G>A p.R1029Q missense 0.00001648●●●●●●
558. 129621976 c.3133G>T p.A1045S missense 0.00001648●●●●●●
559. 129722393 c.5470G>A p.G1824S missense 0.00001648●●●●●●
560. 129824291 c.8413A>G p.M2805V missense 0.00001648●●●●●●
561. 129833610 c.8960G>C p.G2987A missense 0.00001648●●●●●●
562. 129419323 c.402C>A p.F134L missense 0.00001648●●●●●●
563. 129475793 c.1171G>A p.E391K missense 0.00001648●●●●●●
564. 129609188 c.2734G>A p.A912T missense 0.00001648●●●●●●
565. 129609203 c.2749C>T p.P917S missense 0.00001648●●●●●●
566. 129621913 c.3070G>A p.D1024N missense 0.00001648●●●●●●
567. 129621982 c.3139A>G p.N1047D missense 0.00001648●●●●●●
568. 129634120 c.3289C>T p.H1097Y missense 0.00001648●●●●●●
569. 129636974 c.3803C>T p.S1268F missense 0.00001648●●●●●●
570. 129649469 c.4223G>A p.R1408H missense 0.00001648●●●●●●
571. 129670456 c.4450T>C p.C1484R missense 0.00001648●●●●●●
572. 129670484 c.4478G>A p.R1493H missense 0.00001648●●●●●●
573. 129722391 c.5468G>A p.S1823N missense 0.00001648●●●●●●
574. 129799915 c.7529G>A p.S2510N missense 0.00001648●●●●●●
575. 129824304 c.8426A>G p.N2809S missense 0.00001648●●●●●●
576. 129828641 c.8711A>G p.Y2904C missense 0.00001648●●●●●●
577. 129828670 c.8740C>T p.H2914Y missense 0.00001648●●●●●●
578. 129828722 c.8792T>C p.V2931A missense 0.00001648●●●●●●
579. 129828725 c.8795G>C p.G2932A missense 0.00001648●●●●●●
580. 129828751 c.8821G>A p.G2941R missense 0.00001648●●●●●●
581. 129833591 c.8941A>C p.S2981R missense 0.00001648●●●●●●
582. 129833612 c.8962A>T p.M2988L missense 0.00001648●●●●●●
583. 129837355 c.9232C>G p.L3078V missense 0.00001648●●●●●●
584. 129837392 c.9269C>T p.S3090F missense 0.00001648●●●●●●
585. 129777643 c.6867+4A>T splice site 0.00001648●●●●●●
586. 129649504 c.4258T>C p.C1420R missense 0.00001647●●●●●●
587. 129419409 c.488A>T p.Y163F missense 0.00001647●●●●●●
588. 129636694 c.3629delT p.I1210Mfs*14 frameshift 0.00001647●●●●●●
589. 129371114 c.164A>G p.N55S missense 0.00001647●●●●●●
590. 129419363 c.442C>T p.R148W missense 0.00001647●●●●●●
591. 129609018 c.2564C>G p.P855R missense 0.00001647●●●●●●
592. 129609093 c.2639A>G p.D880G missense 0.00001647●●●●●●
593. 129609134 c.2680A>G p.T894A missense 0.00001647●●●●●●
594. 129609141 c.2687G>A p.R896Q missense 0.00001647●●●●●●
595. 129649468 c.4222C>T p.R1408C missense 0.00001647●●●●●●
596. 129649471 c.4225A>G p.T1409A missense 0.00001647●●●●●●
597. 129649508 c.4262A>C p.Q1421P missense 0.00001647●●●●●●
598. 129649417 c.4177-6delT splice site 0.00001647●●●●●●
599. 129813041 c.7899-5A>C splice site 0.00000995●●●●●●
600. 129704382 c.5071+4T>A splice site 0.00000986●●●●●●
601. 129486724 c.1210T>A p.S404T missense 0.00000976●●●●●●
602. 129704379 c.5071+1G>A essential splice site 0.00000972●●●●●●
603. 129486728 c.1214C>T p.P405L missense 0.00000946●●●●●●
604. 129704369 c.5062G>T p.D1688Y missense 0.00000915●●●●●●
605. 129573218 c.1885-11T>C splice site 0.00000892●●●●●●
606. 129618999 c.3026G>T p.G1009V missense 0.00000884●●●●●●
607. 129486743 c.1229C>T p.P410L missense 0.00000878●●●●●●
608. 129704357 c.5050G>C p.E1684Q missense 0.00000871●●●●●●
609. 129618992 c.3019C>T p.Q1007X nonsense 0.00000868●●●●●●
610. 129618993 c.3020_3021delAA p.Gln1007ArgfsTer8 frameshift 0.00000868●●●●●●
611. 129486748 c.1234C>G p.Q412E missense 0.00000867●●●●●●
612. 129573222 c.1885-7C>T splice site 0.00000866●●●●●●
613. 129612752 c.2750-7T>C splice site 0.00000863●●●●●●
614. 129612871 c.2856+6G>T splice site 0.00000863●●●●●●
615. 129823920 c.8357+4T>A splice site 0.00000860●●●●●●
616. 129486754 c.1240T>C p.C414R missense 0.00000860●●●●●●
617. 129486766 c.1252C>A p.P418T missense 0.00000857●●●●●●
618. 129486781 c.1267A>C p.N423H missense 0.00000857●●●●●●
619. 129486767 c.1253C>T p.P418L missense 0.00000856●●●●●●
620. 129486770 c.1256T>C p.I419T missense 0.00000856●●●●●●
621. 129486776 c.1262C>A p.S421Y missense 0.00000856●●●●●●
622. 129775424 c.6698T>C p.V2233A missense 0.00000855●●●●●●
623. 129774146 c.6443delT p.Val2148GlyfsTer27 frameshift 0.00000855●●●●●●
624. 129618983 c.3010T>C p.F1004L missense 0.00000854●●●●●●
625. 129381046 c.396+5A>C splice site 0.00000854●●●●●●
626. 129618980 c.3007T>C p.Y1003H missense 0.00000852●●●●●●
627. 129823916 c.8357G>T p.R2786L missense 0.00000851●●●●●●
628. 129618993 c.3020_6707+2delGTAGCATCAAGGT essential splice site 0.00000851●●●●●●
629. 129381044 c.396+3A>G splice site 0.00000850●●●●●●
630. 129612758 c.2750-1G>A essential splice site 0.00000849●●●●●●
631. 129704343 c.5036G>A p.G1679E missense 0.00000849●●●●●●
632. 129618976 c.3003C>A p.H1001Q missense 0.00000848●●●●●●
633. 129794359 c.7301C>G p.A2434G missense 0.00000848●●●●●●
634. 129634004 c.3175-2A>G essential splice site 0.00000848●●●●●●
635. 129634237 c.3406T>A p.C1136S missense 0.00000847●●●●●●
636. 129704280 c.4973C>G p.T1658R missense 0.00000847●●●●●●
637. 129813062 c.7915G>A p.V2639M missense 0.00000846●●●●●●
638. 129794361 c.7303A>G p.N2435D missense 0.00000846●●●●●●
639. 129612863 c.2854A>C p.K952Q missense 0.00000845●●●●●●
640. 129704286 c.4979A>G p.D1660G missense 0.00000844●●●●●●
641. 129704286 c.4979A>T p.D1660V missense 0.00000844●●●●●●
642. 129381037 c.392A>G p.Q131R missense 0.00000843●●●●●●
643. 129513972 c.1756G>C p.A586P missense 0.00000843●●●●●●
644. 129618971 c.2998G>C p.A1000P missense 0.00000843●●●●●●
645. 129837489 c.9366C>A p.N3122K missense 0.00000843●●●●●●
646. 129687511 c.4860+5G>T splice site 0.00000843●●●●●●
647. 129704294 c.4987C>G p.Q1663E missense 0.00000842●●●●●●
648. 129774160 c.6457G>A p.D2153N missense 0.00000842●●●●●●
649. 129762151 c.6268+8C>T splice site 0.00000842●●●●●●
650. 129794373 c.7315G>T p.V2439L missense 0.00000841●●●●●●
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652. 129823907 c.8348T>G p.V2783G missense 0.00000841●●●●●●
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654. 129714187 c.5235-3C>T splice site 0.00000841●●●●●●
655. 129641805 c.4176+5G>A splice site 0.00000840●●●●●●
656. 129687504 c.4858A>T p.K1620X nonsense 0.00000840●●●●●●
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658. 129714194 c.5239G>A p.A1747T missense 0.00000840●●●●●●
659. 129513968 c.1752_1757delGAGCGC p.Ser585_Ala586del inframe 0.00000840●●●●●●
660. 129723462 c.5563-7A>C splice site 0.00000840●●●●●●
661. 129835511 c.8989-7T>A splice site 0.00000840●●●●●●
662. 129704313 c.5006delA p.Glu1669Glyfs*24 frameshift 0.00000839●●●●●●
663. 129774166 c.6463A>G p.I2155V missense 0.00000839●●●●●●
664. 129634225 c.3394G>C p.G1132R missense 0.00000839●●●●●●
665. 129381033 c.388T>A p.L130I missense 0.00000839●●●●●●
666. 129635794 c.3412-6C>T splice site 0.00000839●●●●●●
667. 129618965 c.2992C>T p.R998C missense 0.00000838●●●●●●
668. 129634031 c.3200C>A p.S1067Y missense 0.00000838●●●●●●
669. 129762143 c.6268A>C p.K2090Q missense 0.00000837●●●●●●
670. 129513964 c.1748A>G p.Y583C missense 0.00000836●●●●●●
671. 129511486 c.1604G>A p.G535D missense 0.00000836●●●●●●
672. 129612767 c.2758T>C p.C920R missense 0.00000836●●●●●●
673. 129612768 c.2759G>A p.C920Y missense 0.00000836●●●●●●
674. 129762140 c.6265A>G p.N2089D missense 0.00000836●●●●●●
675. 129774172 c.6469A>G p.T2157A missense 0.00000836●●●●●●
676. 129637319 c.4058+3A>G splice site 0.00000836●●●●●●
677. 129634217 c.3386A>C p.D1129A missense 0.00000835●●●●●●
678. 129774175 c.6472T>G p.Y2158D missense 0.00000835●●●●●●
679. 129774176 c.6473A>G p.Y2158C missense 0.00000835●●●●●●
680. 129835748 c.9211+8T>C splice site 0.00000835●●●●●●
681. 129634048 c.3217A>G p.N1073D missense 0.00000834●●●●●●
682. 129714239 c.5284C>G p.R1762G missense 0.00000834●●●●●●
683. 129723632 c.5726G>A p.G1909E missense 0.00000834●●●●●●
684. 129601298 c.2537+6A>G splice site 0.00000834●●●●●●
685. 129813635 c.8244+7G>A splice site 0.00000834●●●●●●
686. 129813629 c.8244+1G>A essential splice site 0.00000833●●●●●●
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688. 129634049 c.3218A>G p.N1073S missense 0.00000833●●●●●●
689. 129637313 c.4055G>A p.S1352N missense 0.00000833●●●●●●
690. 129723482 c.5576T>C p.I1859T missense 0.00000833●●●●●●
691. 129762134 c.6259T>C p.S2087P missense 0.00000833●●●●●●
692. 129794403 c.7345A>C p.I2449L missense 0.00000833●●●●●●
693. 129764207 c.6269-1G>C essential splice site 0.00000833●●●●●●
694. 129764215 c.6274+2T>G essential splice site 0.00000833●●●●●●
695. 129786436 c.7300+2T>G essential splice site 0.00000833●●●●●●
696. 129573442 c.2096+2_2096+3insA splice site 0.00000833●●●●●●
697. 129712633 c.5072-3C>A splice site 0.00000833●●●●●●
698. 129764216 c.6274+3A>G splice site 0.00000833●●●●●●
699. 129813632 c.8244+4A>T splice site 0.00000833●●●●●●
700. 129511478 c.1596G>T p.W532C missense 0.00000832●●●●●●
701. 129637309 c.4051C>T p.Q1351X nonsense 0.00000832●●●●●●
702. 129674317 c.4532C>G p.P1511R missense 0.00000832●●●●●●
703. 129712643 c.5079T>A p.N1693K missense 0.00000832●●●●●●
704. 129714242 c.5287G>T p.G1763W missense 0.00000832●●●●●●
705. 129723485 c.5579A>C p.Q1860P missense 0.00000832●●●●●●
706. 129766958 c.6421G>A p.A2141T missense 0.00000832●●●●●●
707. 129774187 c.6484A>G p.I2162V missense 0.00000832●●●●●●
708. 129813083 c.7936delA p.Met2646CysfsTer4 frameshift 0.00000832●●●●●●
709. 129794503 c.7439+6T>G splice site 0.00000832●●●●●●
710. 129635816 c.3428T>C p.I1143T missense 0.00000831●●●●●●
711. 129511473 c.1591T>C p.Y531H missense 0.00000831●●●●●●
712. 129634210 c.3379T>C p.C1127R missense 0.00000831●●●●●●
713. 129712672 c.5108T>C p.L1703P missense 0.00000831●●●●●●
714. 129714243 c.5288G>A p.G1763E missense 0.00000831●●●●●●
715. 129759823 c.6001A>G p.R2001G missense 0.00000831●●●●●●
716. 129794415 c.7357T>C p.S2453P missense 0.00000831●●●●●●
717. 129794494 c.7436T>G p.L2479W missense 0.00000831●●●●●●
718. 129813612 c.8228C>T p.T2743I missense 0.00000831●●●●●●
719. 129813614 c.8230C>A p.P2744T missense 0.00000831●●●●●●
720. 129813614 c.8230C>G p.P2744A missense 0.00000831●●●●●●
721. 129465226 c.819+1_819+2insT essential splice site 0.00000831●●●●●●
722. 129499017 c.1467+6T>C splice site 0.00000831●●●●●●
723. 129722492 c.5562+7A>G splice site 0.00000831●●●●●●
724. 129759878 c.6056C>G p.T2019S missense 0.00000830●●●●●●
725. 129759896 c.6074C>A p.A2025D missense 0.00000830●●●●●●
726. 129759865 c.6043A>C p.T2015P missense 0.00000830●●●●●●
727. 129687477 c.4831G>A p.G1611S missense 0.00000830●●●●●●
728. 129759895 c.6073G>A p.A2025T missense 0.00000830●●●●●●
729. 129823885 c.8326A>T p.I2776F missense 0.00000830●●●●●●
730. 129465221 c.815G>C p.R272T missense 0.00000830●●●●●●
731. 129499010 c.1466A>T p.K489M missense 0.00000830●●●●●●
732. 129618938 c.2965C>T p.P989S missense 0.00000830●●●●●●
733. 129635822 c.3434G>A p.C1145Y missense 0.00000830●●●●●●
734. 129674323 c.4538A>G p.Y1513C missense 0.00000830●●●●●●
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1221. 129588273 c.2231G>A p.R744Q missense 0.00000824●●●●●●
1222. 129588284 c.2242A>G p.T748A missense 0.00000824●●●●●●
1223. 129588294 c.2252G>T p.G751V missense 0.00000824●●●●●●
1224. 129588299 c.2257A>T p.I753F missense 0.00000824●●●●●●
1225. 129588313 c.2271T>G p.C757W missense 0.00000824●●●●●●
1226. 129588334 c.2292G>T p.E764D missense 0.00000824●●●●●●
1227. 129609018 c.2564C>T p.P855L missense 0.00000824●●●●●●
1228. 129609033 c.2579G>T p.G860V missense 0.00000824●●●●●●
1229. 129609054 c.2600G>T p.C867F missense 0.00000824●●●●●●
1230. 129609065 c.2611C>T p.L871F missense 0.00000824●●●●●●
1231. 129609074 c.2620T>C p.S874P missense 0.00000824●●●●●●
1232. 129609080 c.2626C>A p.P876T missense 0.00000824●●●●●●
1233. 129609081 c.2627C>T p.P876L missense 0.00000824●●●●●●
1234. 129609096 c.2642G>A p.S881N missense 0.00000824●●●●●●
1235. 129609108 c.2654C>T p.S885F missense 0.00000824●●●●●●
1236. 129609122 c.2668A>G p.K890E missense 0.00000824●●●●●●
1237. 129609140 c.2686C>T p.R896W missense 0.00000824●●●●●●
1238. 129609161 c.2707G>A p.D903N missense 0.00000824●●●●●●
1239. 129609174 c.2720G>A p.G907E missense 0.00000824●●●●●●
1240. 129609180 c.2726C>T p.A909V missense 0.00000824●●●●●●
1241. 129609185 c.2731G>A p.D911N missense 0.00000824●●●●●●
1242. 129609195 c.2741A>G p.N914S missense 0.00000824●●●●●●
1243. 129609203 c.2749C>A p.P917T missense 0.00000824●●●●●●
1244. 129621895 c.3052C>T p.H1018Y missense 0.00000824●●●●●●
1245. 129621922 c.3079A>G p.T1027A missense 0.00000824●●●●●●
1246. 129621934 c.3091A>G p.I1031V missense 0.00000824●●●●●●
1247. 129621938 c.3095G>A p.C1032Y missense 0.00000824●●●●●●
1248. 129621947 c.3104A>G p.N1035S missense 0.00000824●●●●●●
1249. 129621983 c.3140A>G p.N1047S missense 0.00000824●●●●●●
1250. 129621992 c.3149G>T p.G1050V missense 0.00000824●●●●●●
1251. 129634124 c.3293G>T p.W1098L missense 0.00000824●●●●●●
1252. 129634129 c.3298T>C p.Y1100H missense 0.00000824●●●●●●
1253. 129634135 c.3304C>T p.R1102C missense 0.00000824●●●●●●
1254. 129634136 c.3305G>A p.R1102H missense 0.00000824●●●●●●
1255. 129634181 c.3350C>T p.T1117I missense 0.00000824●●●●●●
1256. 129635921 c.3533C>A p.A1178E missense 0.00000824●●●●●●
1257. 129635926 c.3538G>A p.G1180R missense 0.00000824●●●●●●
1258. 129635927 c.3539G>T p.G1180V missense 0.00000824●●●●●●
1259. 129635943 c.3555G>C p.W1185C missense 0.00000824●●●●●●
1260. 129636638 c.3573G>T p.E1191D missense 0.00000824●●●●●●
1261. 129636643 c.3578C>G p.T1193S missense 0.00000824●●●●●●
1262. 129636649 c.3584T>C p.L1195P missense 0.00000824●●●●●●
1263. 129636651 c.3586C>T p.P1196S missense 0.00000824●●●●●●
1264. 129636658 c.3593T>C p.V1198A missense 0.00000824●●●●●●
1265. 129636666 c.3601G>T p.A1201S missense 0.00000824●●●●●●
1266. 129636669 c.3604C>G p.L1202V missense 0.00000824●●●●●●
1267. 129636672 c.3607C>A p.Q1203K missense 0.00000824●●●●●●
1268. 129636675 c.3610C>T p.H1204Y missense 0.00000824●●●●●●
1269. 129636715 c.3650T>C p.I1217T missense 0.00000824●●●●●●
1270. 129636726 c.3661A>G p.M1221V missense 0.00000824●●●●●●
1271. 129636733 c.3668T>C p.L1223P missense 0.00000824●●●●●●
1272. 129636965 c.3794C>T p.T1265I missense 0.00000824●●●●●●
1273. 129637001 c.3830G>A p.R1277Q missense 0.00000824●●●●●●
1274. 129637033 c.3862G>T p.V1288F missense 0.00000824●●●●●●
1275. 129649433 c.4187C>T p.P1396L missense 0.00000824●●●●●●
1276. 129649445 c.4199G>A p.R1400Q missense 0.00000824●●●●●●
1277. 129649450 c.4204C>T p.R1402C missense 0.00000824●●●●●●
1278. 129649472 c.4226C>A p.T1409N missense 0.00000824●●●●●●
1279. 129649474 c.4228C>G p.P1410A missense 0.00000824●●●●●●
1280. 129649475 c.4229C>T p.P1410L missense 0.00000824●●●●●●
1281. 129649478 c.4232G>A p.G1411E missense 0.00000824●●●●●●
1282. 129649484 c.4238C>T p.T1413I missense 0.00000824●●●●●●
1283. 129649487 c.4241T>G p.L1414R missense 0.00000824●●●●●●
1284. 129649490 c.4244G>A p.G1415D missense 0.00000824●●●●●●
1285. 129649493 c.4247C>T p.T1416I missense 0.00000824●●●●●●
1286. 129649552 c.4306T>C p.C1436R missense 0.00000824●●●●●●
1287. 129663499 c.4323T>A p.H1441Q missense 0.00000824●●●●●●
1288. 129663542 c.4366T>C p.Y1456H missense 0.00000824●●●●●●
1289. 129663563 c.4387C>A p.P1463T missense 0.00000824●●●●●●
1290. 129670446 c.4440C>G p.F1480L missense 0.00000824●●●●●●
1291. 129670490 c.4484C>A p.T1495K missense 0.00000824●●●●●●
1292. 129670499 c.4493C>T p.P1498L missense 0.00000824●●●●●●
1293. 129670502 c.4496G>T p.R1499L missense 0.00000824●●●●●●
1294. 129670504 c.4498G>C p.G1500R missense 0.00000824●●●●●●
1295. 129674446 c.4661G>A p.G1554E missense 0.00000824●●●●●●
1296. 129674451 c.4666A>G p.K1556E missense 0.00000824●●●●●●
1297. 129687379 c.4733G>T p.C1578F missense 0.00000824●●●●●●
1298. 129687396 c.4750G>C p.G1584R missense 0.00000824●●●●●●
1299. 129687409 c.4763G>A p.R1588H missense 0.00000824●●●●●●
1300. 129687414 c.4768G>C p.E1590Q missense 0.00000824●●●●●●
1301. 129722381 c.5458G>A p.A1820T missense 0.00000824●●●●●●
1302. 129722394 c.5471G>A p.G1824D missense 0.00000824●●●●●●
1303. 129722424 c.5501A>G p.E1834G missense 0.00000824●●●●●●
1304. 129724985 c.5746A>C p.N1916H missense 0.00000824●●●●●●
1305. 129724988 c.5749A>T p.I1917F missense 0.00000824●●●●●●
1306. 129725004 c.5765C>T p.T1922I missense 0.00000824●●●●●●
1307. 129725006 c.5767G>T p.A1923S missense 0.00000824●●●●●●
1308. 129725006 c.5767G>A p.A1923T missense 0.00000824●●●●●●
1309. 129748930 c.5899G>T p.A1967S missense 0.00000824●●●●●●
1310. 129748934 c.5903A>G p.K1968R missense 0.00000824●●●●●●
1311. 129777537 c.6765T>G p.I2255M missense 0.00000824●●●●●●
1312. 129777554 c.6782A>G p.H2261R missense 0.00000824●●●●●●
1313. 129777571 c.6799G>A p.G2267R missense 0.00000824●●●●●●
1314. 129777595 c.6823G>A p.A2275T missense 0.00000824●●●●●●
1315. 129777596 c.6824C>G p.A2275G missense 0.00000824●●●●●●
1316. 129777619 c.6847G>T p.G2283C missense 0.00000824●●●●●●
1317. 129799903 c.7517A>C p.Y2506S missense 0.00000824●●●●●●
1318. 129799920 c.7534C>T p.P2512S missense 0.00000824●●●●●●
1319. 129799945 c.7559G>A p.G2520E missense 0.00000824●●●●●●
1320. 129799953 c.7567C>G p.L2523V missense 0.00000824●●●●●●
1321. 129802459 c.7624G>C p.V2542L missense 0.00000824●●●●●●
1322. 129802466 c.7631T>C p.I2544T missense 0.00000824●●●●●●
1323. 129802475 c.7640G>C p.G2547A missense 0.00000824●●●●●●
1324. 129802483 c.7648A>G p.I2550V missense 0.00000824●●●●●●
1325. 129802541 c.7706G>T p.G2569V missense 0.00000824●●●●●●
1326. 129824261 c.8383A>G p.T2795A missense 0.00000824●●●●●●
1327. 129824261 c.8383A>T p.T2795S missense 0.00000824●●●●●●
1328. 129824276 c.8398G>A p.G2800S missense 0.00000824●●●●●●
1329. 129824289 c.8411A>C p.Y2804S missense 0.00000824●●●●●●
1330. 129824297 c.8419C>G p.R2807G missense 0.00000824●●●●●●
1331. 129824298 c.8420G>A p.R2807H missense 0.00000824●●●●●●
1332. 129824322 c.8444C>G p.T2815R missense 0.00000824●●●●●●
1333. 129824324 c.8446G>C p.V2816L missense 0.00000824●●●●●●
1334. 129824364 c.8486T>C p.L2829S missense 0.00000824●●●●●●
1335. 129824370 c.8492G>C p.S2831T missense 0.00000824●●●●●●
1336. 129826411 c.8614A>G p.S2872G missense 0.00000824●●●●●●
1337. 129826424 c.8627C>G p.A2876G missense 0.00000824●●●●●●
1338. 129826454 c.8657A>G p.Y2886C missense 0.00000824●●●●●●
1339. 129826459 c.8662G>T p.G2888C missense 0.00000824●●●●●●
1340. 129826476 c.8679C>A p.N2893K missense 0.00000824●●●●●●
1341. 129828644 c.8714G>A p.S2905N missense 0.00000824●●●●●●
1342. 129828647 c.8717T>C p.I2906T missense 0.00000824●●●●●●
1343. 129828666 c.8736T>G p.N2912K missense 0.00000824●●●●●●
1344. 129828689 c.8759C>A p.A2920D missense 0.00000824●●●●●●
1345. 129828712 c.8782A>G p.S2928G missense 0.00000824●●●●●●
1346. 129828749 c.8819G>A p.R2940K missense 0.00000824●●●●●●
1347. 129828782 c.8852A>T p.K2951I missense 0.00000824●●●●●●
1348. 129833570 c.8920A>C p.T2974P missense 0.00000824●●●●●●
1349. 129833589 c.8939T>A p.I2980N missense 0.00000824●●●●●●
1350. 129833591 c.8941A>G p.S2981G missense 0.00000824●●●●●●
1351. 129833595 c.8945G>T p.S2982I missense 0.00000824●●●●●●
1352. 129833606 c.8956G>A p.D2986N missense 0.00000824●●●●●●
1353. 129833634 c.8984A>G p.E2995G missense 0.00000824●●●●●●
1354. 129833637 c.8987A>C p.K2996T missense 0.00000824●●●●●●
1355. 129835639 c.9110T>C p.I3037T missense 0.00000824●●●●●●
1356. 129835653 c.9124G>T p.D3042Y missense 0.00000824●●●●●●
1357. 129835657 c.9128G>A p.G3043E missense 0.00000824●●●●●●
1358. 129835678 c.9149G>C p.S3050T missense 0.00000824●●●●●●
1359. 129837341 c.9218T>C p.L3073P missense 0.00000824●●●●●●
1360. 129837368 c.9245T>A p.I3082N missense 0.00000824●●●●●●
1361. 129837383 c.9260G>C p.C3087S missense 0.00000824●●●●●●
1362. 129837400 c.9277C>T p.L3093F missense 0.00000824●●●●●●
1363. 129837424 c.9301C>A p.L3101M missense 0.00000824●●●●●●
1364. 129837425 c.9302T>A p.L3101Q missense 0.00000824●●●●●●
1365. 129371192 c.242_243delCG p.Gln82ValfsTer22 frameshift 0.00000824●●●●●●
1366. 129419363 c.442_443insG p.Pro149AlafsTer11 frameshift 0.00000824●●●●●●
1367. 129571268 c.1794_1796delAGG p.Gly600del inframe 0.00000824●●●●●●
1368. 129571295 c.1821_1822delAT p.Tyr608Ter frameshift 0.00000824●●●●●●
1369. 129581926 c.2167_2168delGT p.Cys724SerfsTer12 frameshift 0.00000824●●●●●●
1370. 129609204 c.2749+1_2749+2insT essential splice site 0.00000824●●●●●●
1371. 129621947 c.3104_3107delATAC p.Asn1035ThrfsTer39 frameshift 0.00000824●●●●●●
1372. 129828732 c.8802delT p.Phe2935LeufsTer30 frameshift 0.00000824●●●●●●
1373. 129833597 c.8947_8948insA p.Met2985AsnfsTer7 frameshift 0.00000824●●●●●●
1374. 129371064 c.114T>C splice site 0.00000824●●●●●●
1375. 129419311 c.397-7T>A splice site 0.00000824●●●●●●
1376. 129511342 c.1468-8A>T splice site 0.00000824●●●●●●
1377. 129581851 c.2097-5C>T splice site 0.00000824●●●●●●
1378. 129581852 c.2097-4A>G splice site 0.00000824●●●●●●
1379. 129608985 c.2538-7G>A splice site 0.00000824●●●●●●
1380. 129621873 c.3038-8C>T splice site 0.00000824●●●●●●
1381. 129621874 c.3038-7G>A splice site 0.00000824●●●●●●
1382. 129635950 c.3555+7A>G splice site 0.00000824●●●●●●
1383. 129649425 c.4179A>T splice site 0.00000824●●●●●●
1384. 129649563 c.4311+6C>T splice site 0.00000824●●●●●●
1385. 129649565 c.4311+8T>A splice site 0.00000824●●●●●●
1386. 129687359 c.4718-5C>T splice site 0.00000824●●●●●●
1387. 129828786 c.8856A>G splice site 0.00000824●●●●●●
1388. 129833645 c.8988+7G>T splice site 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.